This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Cys681_Leu682delinsProProCys;Pro685Asp;Ile687_Asn688delinsPro;His690_Cys698delinsLeuAlaGlnValTyrLeuArgLeu;Asp700del;Met702_Leu704delinsArgHisAla;Arg706_Ser710delinsGlyGlnGlyHisGluGluLeu]
CA2497030036
XM_011528010.2:c.2041_2042del